Mitochondrial disorders
Gene: COA7
COA7 (cytochrome c oxidase assembly factor 7 (putative))
EnsemblGeneIds (GRCh38): ENSG00000162377
EnsemblGeneIds (GRCh37): ENSG00000162377
OMIM: 615623, Gene2Phenotype
COA7 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000162377
EnsemblGeneIds (GRCh37): ENSG00000162377
OMIM: 615623, Gene2Phenotype
COA7 is in 11 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: Several unrelated cases and functional studies.
From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex IV deficiency (Version 0.40).Created: 23 May 2019, 1:19 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387
- spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
- OMIM
- 615623
- Clinvar variants
- Variants in COA7
- Penetrance
- None
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Mitochondrial disorders
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy or pain disorder
- Mitochondrial disorder with complex IV deficiency
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
13 Apr 2021, Gel status: 3
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: COA7 were changed from to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387; spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
23 May 2019, Gel status: 3
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: COA7 were set to
23 May 2019, Gel status: 3
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: COA7 was changed from to BIALLELIC, autosomal or pseudoautosomal
23 May 2019, Gel status: 3
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: coa7 has been classified as Green List (High Evidence).
21 May 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance
Sarah Leigh (Genomics England Curator)gene: COA7 was added gene: COA7 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: COA7 was set to